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1دورية أكاديمية
المؤلفون: Katharina A. Schiergens, Katharina J. Weiss, Wulf Röschinger, Amelie S. Lotz-Havla, Joachim Schmitt, Robert Dalla Pozza, Sarah Ulrich, Birgit Odenwald, Joachim Kreuder, Esther M. Maier
المصدر: Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100776- (2021)
مصطلحات موضوعية: Carnitine transporter defect, Systemic primary carnitine deficiency, Newborn screening, Asymptomatic mothers, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Abdulrahman Alghamdi, Hani Almalki, Aiman Shawli, Rahaf Waggass, Fahad Hakami
المصدر: Pediatric Reports, Vol 10, Iss 2 (2018)
مصطلحات موضوعية: Systemic Primary Carnitine Deficiency, SLC22A5, Dilated Cardiomyopathy, OCTN2., Medicine, Pediatrics, RJ1-570
وصف الملف: electronic resource
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المؤلفون: Tatsuo Fuchigami, Maki Furukawa, Koji Hashimoto, Toshiyuki Fukao, Nobuyuki Ishige, Mika Ishige, Ryoji Fujiki, Ichiro Morioka, Yasuji Inamo, Hideo Sasai, Erika Ogawa, Hironori Kobayashi
المصدر: Journal of Infection and Chemotherapy. 25:913-916
مصطلحات موضوعية: Rotavirus, 0301 basic medicine, Microbiology (medical), medicine.medical_specialty, 030106 microbiology, Hypoglycemia, medicine.disease_cause, Gastroenterology, Rotavirus Infections, Hepatitis, 03 medical and health sciences, 0302 clinical medicine, Muscular Diseases, Carnitine, Internal medicine, Systemic primary carnitine deficiency, medicine, Humans, Hyperammonemia, Pharmacology (medical), 030212 general & internal medicine, Newborn screening, business.industry, Fatty liver, Infant, medicine.disease, Gastroenteritis, Infectious Diseases, Acute Disease, Female, Steatosis, Cardiomyopathies, business, Primary Carnitine Deficiency, medicine.drug
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4
المؤلفون: S. Ulrich, Joachim Kreuder, Wulf Röschinger, Robert Dalla Pozza, Birgit Odenwald, Esther M. Maier, Katharina J. Weiss, Joachim Schmitt, Katharina A. Schiergens, Amelie S. Lotz-Havla
المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100776-(2021)مصطلحات موضوعية: Newborn screening, Pediatrics, medicine.medical_specialty, Medicine (General), QH301-705.5, Asymptomatic, environment and public health, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, R5-920, Systemic primary carnitine deficiency, Genetics, Medicine, Clinical significance, Biology (General), Adverse effect, Molecular Biology, 0303 health sciences, business.industry, Incidence (epidemiology), 030305 genetics & heredity, Carnitine transporter defect, Asymptomatic mothers, medicine.disease, Inborn error of metabolism, CTD, medicine.symptom, business, 030217 neurology & neurosurgery, Research Paper
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المؤلفون: Si Chen, Jin Lin, Xiaojian Zhou, Shangqin Chen, Yan Nan, Zhenlang Lin, Yumei Huang, Yingying Hu
المصدر: BMC Pediatrics, Vol 19, Iss 1, Pp 1-7 (2019)
BMC Pediatricsمصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Mothers, Case Report, Status epilepticus, SLC22A5, Infant, Newborn, Diseases, Carnitine transport, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Magnetic resonance imaging, Muscular Diseases, Seizures, 030225 pediatrics, Carnitine, Systemic primary carnitine deficiency, medicine, Amplitude integrated electroencephalogram, Humans, Hyperammonemia, 030212 general & internal medicine, Carnitine deficiency, Newborn screening, biology, business.industry, Infant, Newborn, lcsh:RJ1-570, Brain, Infant, Electroencephalography, lcsh:Pediatrics, medicine.disease, Newborn, Fetal Diseases, Pediatrics, Perinatology and Child Health, Mutation, biology.protein, Female, medicine.symptom, Primary Carnitine Deficiency, business, Cardiomyopathies, medicine.drug
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المؤلفون: Rachel Thompson, Hanns Lochmüller, Sally Spendiff, Alexander Manta
المصدر: Journal of Neuromuscular Diseases
مصطلحات موضوعية: medicine.medical_specialty, Farmacologia, drug therapies, systemic primary carnitine deficiency, 03 medical and health sciences, 0302 clinical medicine, systematic review, multiple acyl-CoA dehydrogenase deficiency, 030225 pediatrics, Political science, medicine, media_common.cataloged_instance, European union, Stipend, media_common, Músculs -- Malalties, Pompe disease, genotype-treatment correlation, 3. Good health, Treatabolome, Neurology, Family medicine, Neurology (clinical), 030217 neurology & neurosurgery, metabolic myopathies, Genètica
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::538ab265c77c88256a1ca0ea23c8a35f
http://hdl.handle.net/10230/47615 -
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المؤلفون: H. Tang, William R. Wilcox, Karen Leydiker, H.J. Lin, Natalie M. Gallant, Yael Wilnai, Seymour Packman, Gregory M. Enns, Chung Lee, Jose E. Abdenur, Lisa Feuchtbaum, Fred Lorey, Jennifer M. Carter, Stephen D. Cederbaum
المصدر: Molecular Genetics and Metabolism. 122:76-84
مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Mothers, Physiology, SLC22A5, environment and public health, Biochemistry, Cobalamin, California, 03 medical and health sciences, chemistry.chemical_compound, Neonatal Screening, Endocrinology, Muscular Diseases, Limit of Detection, Carnitine, Systemic primary carnitine deficiency, Genetics, medicine, Humans, Hyperammonemia, False Positive Reactions, Solute Carrier Family 22 Member 5, Molecular Biology, Newborn screening, biology, business.industry, fungi, Infant, Newborn, Sequence Analysis, DNA, Fibroblasts, medicine.disease, MCADD, Dried blood spot, 030104 developmental biology, chemistry, Mutation, biology.protein, Female, Dried Blood Spot Testing, CTD, Cardiomyopathies, business, medicine.drug
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8دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
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المؤلفون: Aiman Shawli, Abdulrahman Alghamdi, Rahaf Waggass, Hani Almalki, Fahad Hakami
المصدر: Pediatric Reports
Volume 10
Issue 2
Pediatric Reports, Vol 10, Iss 2 (2018)مصطلحات موضوعية: medicine.medical_specialty, Cardiomyopathy, lcsh:Medicine, Case Report, 030204 cardiovascular system & hematology, SLC22A5, Pediatrics, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Systemic primary carnitine deficiency, Systemic Primary Carnitine Deficiency, medicine, 030212 general & internal medicine, Carnitine, OCTN2, Systemic Primary Carnitine Deficiency, SLC22A5, Dilated Cardiomyopathy, OCTN2, Dilated Cardiomyopathy, biology, Respiratory distress, business.industry, lcsh:R, Hypoketotic hypoglycemia, lcsh:RJ1-570, lcsh:Pediatrics, Dilated cardiomyopathy, Hyperammonemia, medicine.disease, biology.protein, business, medicine.drug
وصف الملف: application/pdf
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المؤلفون: Ching-Wei Hu, Yah-Huei Wu-Chou, Ching-Hsuan Hu, Lun-Jou Lo
المصدر: Journal of Craniofacial Surgery. 29:1601-1603
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, 030105 genetics & heredity, Gene mutation, SLC22A5, Asymptomatic, Sudden death, Gastroenterology, Perioperative Care, 03 medical and health sciences, 0302 clinical medicine, Muscular Diseases, Carnitine, Internal medicine, Systemic primary carnitine deficiency, medicine, Humans, Hyperammonemia, Solute Carrier Family 22 Member 5, Wasting, biology, business.industry, Infant, Fasting, General Medicine, medicine.disease, Cleft Palate, Plastic surgery, Otorhinolaryngology, Mutation, biology.protein, Surgery, medicine.symptom, Cardiomyopathies, business, 030217 neurology & neurosurgery, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de944208006a30f8cb642b8216545a87
https://doi.org/10.1097/scs.0000000000004595